A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028059



Internal ID19117277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:43626575..43968893hg38UCSC Ensembl
Innerchr8:43481718..43824036hg19UCSC Ensembl
Innerchr8:43600875..43943193hg18UCSC Ensembl
Cytoband8p11.1
Allele length
AssemblyAllele length
hg38342319
hg19342319
hg18342319
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7193n100
Supporting Variantsnssv3757246, nssv3687321, nssv3687319, nssv3687320, nssv3757245
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1028059
Frequency
Sample Size11257
Observed Gain4
Observed Loss1
Observed Complex0
Frequencyn/a


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